Androgen Insensitivity Syndrome

Common Name(s)

Androgen Insensitivity Syndrome, Androgen Resistance Syndrome

Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development. There are three types of androgen insensitivity syndrome which vary in severity. There are different management options, so talk to your doctor about the best care plan if you or your child has been diagnosed with androgen insensitivity syndrome. For more information about the different types, please visit: mild androgen insensitivity syndrome; partial androgen insensitivity syndrome; or complete androgen insensitivity syndrome.

Androgen insensitivity syndrome is caused by mutations in the AR gene on the X chromosome. It is inherited (runs in families) as an X-linked recessive trait. Normally, we have two copies of every gene, one on a chromosome inherited from each of our birth parents. Recessive means that both copies of the gene must have the change which causes the condition. However, the sex chromosomes are different. A male has one X and one Y chromosome, whereas a female has two X chromosomes. So a male only has one copy of a gene on the X chromosome, and if this one copy has the mutation, he will have androgen insensitivity syndrome. Talk with a genetic counselor if you or a family member has been diagnosed with androgen insensitivity syndrome.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Androgen Insensitivity Syndrome" for support, advocacy or research.

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

Last Updated: 12 Jan 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Androgen Insensitivity Syndrome" for support, advocacy or research.

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

http://www.aisdsd.org

Last Updated: 12 Jan 2015

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Androgen Insensitivity Syndrome" returned 71 free, full-text research articles on human participants. First 3 results:

Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.
 

Author(s): Sunita M C De Sousa, Karin S Kassahn, Liam C McIntyre, Chan-Eng Chong, Hamish S Scott, David J Torpy

Journal:

 

The 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated.

Last Updated: 8 Nov 2016

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Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.
 

Author(s): Vittoria Disciglio, Andrea Devecchi, Orazio Palumbo, Massimo Carella, Donata Penso, Massimo Milione, Giorgio Valle, Marco Alessandro Pierotti, Marco Vitellaro, Lucio Bertario, Silvana Canevari, Stefano Signoroni, Loris De Cecco

Journal:

 

Androgen insensitivity syndrome (AIS), a disorder of sexual development in 46, XY individuals, is caused by loss-of-function mutations in the androgen receptor (AR) gene. A variety of tumors have been reported in association with AIS, but no cases with colorectal cancer (CRC) have been described.

Last Updated: 9 Jun 2016

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A missense mutation in the androgen receptor gene causing androgen insensitivity syndrome in a Chinese family.
 

Author(s): Lin Li, Wen-Miao Liu, Mei-Xin Liu, Shu-Qi Zheng, Ji-Xia Zhang, Feng-Yuan Che, Shi-Guo Liu

Journal: Asian J. Androl.. ;19(2):260-261.

 

Last Updated: 25 Jan 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Androgen Insensitivity Syndrome" returned 8 free, full-text review articles on human participants. First 3 results:

Complete androgen insensitivity syndrome or testicular feminization: review of literature based on a case report.
 

Author(s): Regragui Souhail, Slaoui Amine, Abounouh Nadia, Karmouni Tarik, El Khader Khalid, Koutani Abdellatif, Ibn Attya Ahmed

Journal:

 

Testicular feminization, or the androgen insensitivity syndrome, is a rare disease. Because of various abnormalities of the X chromosome, a male, genetically XY, has some physical characteristics of a woman or a full female phenotype. Indeed the androgen insensitivity syndrome occurs ...

Last Updated: 8 Mar 2017

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[Complete androgen insensitivity syndrome: report of two cases and review of literature].
 

Author(s): Boutaina Lachiri, Ihssane Hakimi, Adil Boudhas, Khalid Guelzim, Jaouad Kouach, Mohamed Oukabli, Driss Moussaoui Rahali, Mohamed Dehayni

Journal:

 

Last Updated: 24 Aug 2015

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Androgen insensitivity syndrome.
 

Author(s): Ieuan A Hughes, John D Davies, Trevor I Bunch, Vickie Pasterski, Kiki Mastroyannopoulou, Jane MacDougall

Journal: Lancet. 2012 Oct;380(9851):1419-28.

 

Androgen insensitivity syndrome in its complete form is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriate normal concentrations of androgens. Pathogenesis is the result of mutations in the ...

Last Updated: 22 Oct 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.